Roberto Giugliani

Dados pessoais Membro

Lattes
Grupos de Pesquisa
Genealogia Acadêmica

Nacionalidade: Brasileira
Grande área de atuação: Ciências Biológicas
Área de atuação: Genética

Publicações

Total: 1765

Área temática ASJC

Percentual das publicações classificadas

HS Ciências da Saúde
LS Ciências da Vida
MU Multidisciplinar
PS Ciências Físicas
SH Ciências Sociais e Humanidades

Categoria ASJC

Categorias ASJC mais frequentes

Nome	Vínculo	Grande área de atuação	Área de atuação
Nome	Vínculo	Grande área de atuação	Área de atuação
Alicia Matijasevich MANITTO		Ciências da Saúde	Saúde Coletiva
Ana Maria Marques Da SILVA		Ciências Exatas e da Terra	Física
Bernardo Lessa HORTA		Ciências da Saúde	Medicina
Bruno Duarte GOMES	Membro	Ciências Biológicas	Fisiologia
Carlos Alberto Saraiva GONÇALVES	Membro	Ciências Biológicas	Bioquímica
Carlos Alexandre NETTO	Membro	Ciências Biológicas	Bioquímica
Carmen Lucia Bezerra MACHADO		Ciências Humanas	Educação
Chong Ae KIM		Ciências da Saúde	Medicina
Christian Costa KIELING		Ciências da Saúde	Medicina
Dafne Dain Gandelman HOROVITZ		Ciências da Saúde	Medicina
Decio BRUNONI		Ciências Biológicas	Genética
Diogo Onofre Gomes De SOUZA		Ciências Biológicas	Bioquímica
Jaderson Costa Da COSTA	Membro	Ciências da Saúde	Medicina
Jair Licio Ferreira SANTOS		Ciências Sociais Aplicadas	Demografia
Juan Clinton Llerena JUNIOR		Ciências da Saúde	Medicina
Luciana Neves NUNES		Ciências Humanas	Educação
Maria Raquel Santos CARVALHO		Ciências Biológicas	Genética
Paulo Ricardo Gazzola ZEN		Ciências da Saúde	Medicina
Vânia D ALMEIDA	Membro	Ciências Biológicas	Bioquímica
Vera Maria Treis TRINDADE		Ciências Biológicas	Bioquímica

Figura 1

Número de publicações por ano e por tipo

Todas as publicações do perfil

Figura 2

Categorias ASJC mais frequentes por ano

A cor dos pontos identifica a categoria predominante

Figura 3

Mapa de calor das categorias ASJC por ano

Frequências absolutas; cores mais escuras indicam mais publicações. Todas as categorias ASJC e anos disponíveis, sem aplicar os filtros da página.

Escala: 0 → 45

Mapa de calor das categorias ASJC por ano
Categoria ASJC	1980	1981	1982	1983	1984	1985	1986	1987	1988	1989	1990	1991	1992	1993	1994	1995	1996	1997	1998	1999	2000	2001	2002	2003	2004	2005	2006	2007	2008	2009	2010	2011	2012	2013	2014	2015	2016	2017	2018	2019	2020	2021	2022	2023	2024	2025	2026
2716 · Genetics (clinical)	1	1	1	1	0	1	4	1	0	1	1	1	6	4	1	6	6	4	7	23	12	19	11	42	37	35	45	39	33	16	4	8	6	14	9	7	5	9	4	7	7	14	6	7	4	7	1
1311 · Genetics	0	1	0	0	1	2	2	0	0	2	5	2	0	1	2	2	5	8	10	22	13	13	25	28	22	37	16	18	22	12	6	4	1	5	6	6	3	3	6	7	4	4	6	2	2	2	0
2701 · Medicine (miscellaneous)	0	0	0	1	1	1	3	1	2	0	1	0	1	3	3	1	2	5	7	14	10	14	26	23	25	35	17	32	33	8	1	5	8	5	4	6	3	8	5	2	4	5	5	0	1	1	1
1301 · Biochemistry; Genetics and Molecular Biology (miscellaneous)	0	0	0	0	1	0	0	1	0	3	1	1	0	0	0	2	1	0	3	9	2	7	3	12	9	14	8	20	3	4	0	2	5	1	8	6	6	5	6	3	3	4	4	2	0	0	0
2735 · Pediatrics; Perinatology and Child Health	0	0	0	0	0	0	0	0	0	0	1	2	2	0	1	3	1	3	1	1	2	3	0	0	2	5	4	6	2	2	2	2	3	0	2	1	0	2	1	0	1	0	2	0	1	1	0
2712 · Endocrinology; Diabetes and Metabolism	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	2	0	1	0	3	8	0	1	5	5	4	5	1	0	0	0	0	1	0	0	1	0	0	1	0	0	0	2	2	1
2728 · Neurology (clinical)	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	1	1	0	1	3	1	0	0	4	3	1	1	1	0	0	3	0	0	2	1	2	0	0	0	1	0	1	0	1	0
1308 · Clinical Biochemistry	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	2	1	1	0	0	1	5	2	2	1	2	1	1	0	1	2	0	1	3	0	0	0	0	1	0	0	0	0
1312 · Molecular Biology	0	0	0	0	0	0	0	0	0	0	0	0	2	0	0	0	0	1	1	0	3	0	0	0	0	0	1	2	0	1	1	1	4	0	3	0	0	2	1	0	1	1	0	2	0	0	1
2700 · General Medicine	0	0	0	1	0	0	0	0	1	0	2	0	0	0	0	0	0	0	0	0	2	0	1	0	1	1	0	0	1	0	0	0	1	0	0	2	1	0	1	1	0	1	0	1	0	0	0
2736 · Pharmacology (medical)	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	1	1	0	0	0	0	2	0	2	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	1	0	1	2	0
1303 · Biochemistry	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	2	0	1	1	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	2	0
2808 · Neurology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	2	1	2	0	2	2	1	0	0	0	0	0	0	0	0	0	0	2	0	1	0	0	0	0	0	0
2713 · Epidemiology	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	1	2	0	0	2	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	1	1
2704 · Biochemistry (medical)	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	2	1	3	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1
2739 · Public Health; Environmental and Occupational Health	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	1	1	0	1	0	0	1	0	0	0	2	1	1	0
2741 · Radiology; Nuclear Medicine and Imaging	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	3	1	1	1	0	0	0	0	0	0	0	1	0	1	0	0	1	1	0	0	0	0	0
2724 · Internal Medicine	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	1	1	2	2
2730 · Oncology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	2	0	4	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0
3201 · Psychology (miscellaneous)	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	1	1	0	0	0	0	1	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
1306 · Cancer Research	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	2	0	0	2	0	0	0	4	0	0	0	0	0	0	0	0	0	0	0	0	0	0
1307 · Cell Biology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	3	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0
2801 · Neuroscience (miscellaneous)	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	3	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0
2705 · Cardiology and Cardiovascular Medicine	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	1
1402 · Accounting	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	2	0	0	0	0	0	0	0	0	0	0	2	0	0
2725 · Infectious Diseases	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	3	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
1309 · Developmental Biology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	1	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2710 · Embryology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	1	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2729 · Obstetrics and Gynecology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2748 · Urology	2	2	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
1305 · Biotechnology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	2	1
1314 · Physiology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	2	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0
2719 · Health Policy	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0
2919 · Pediatrics	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0
3001 · Pharmacology; Toxicology and Pharmaceutics (miscellaneous)	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	1	1	0	0	0	0	0	0	0	0	0
3004 · Pharmacology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	2	0	0	0	0	0	0	0	0	0	0	0	0	0
1103 · Animal Science and Zoology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
1313 · Molecular Medicine	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0
2401 · Immunology and Microbiology (miscellaneous)	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0
2723 · Immunology and Allergy	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0
3501 · Dentistry (miscellaneous)	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0
1300 · General Biochemistry; Genetics and Molecular Biology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0
1310 · Endocrinology	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2708 · Dermatology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2738 · Psychiatry and Mental Health	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2740 · Pulmonary and Respiratory Medicine	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2743 · Reproductive Medicine	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2916 · Nutrition and Dietetics	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0
3003 · Pharmaceutical Science	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	2	0	0
3301 · Social Sciences (miscellaneous)	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	0
1000 · Multidisciplinary	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
1202 · History	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0
1207 · History and Philosophy of Science	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0
2301 · Environmental Science (miscellaneous)	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2404 · Microbiology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2406 · Virology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2717 · Geriatrics and Gerontology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0
2718 · Health Informatics	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2727 · Nephrology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2731 · Ophthalmology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2732 · Orthopedics and Sports Medicine	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0
2734 · Pathology and Forensic Medicine	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2737 · Physiology (medical)	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2744 · Reviews and References (medical)	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2802 · Behavioral Neuroscience	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2901 · Nursing (miscellaneous)	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2913 · Maternity and Midwifery	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
3005 · Toxicology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
3204 · Developmental and Educational Psychology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0
3304 · Education	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
3601 · Health Professions (miscellaneous)	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0

Ano	Tipo	Registro	Área temática e categoria ASJC
	Tipo de Publicação	Registro	Área temática e categoria ASJC
2012	Artigo em periódico	The role of enzyme replacement therapy in severe Hunter syndrome¿an expert panel consensus Muenzer JOSEPH; Bodamer OLAF; Burton BARBARA; Clarke LORNE; Frenking Gudrun SCHULZE et al European Journal of Pediatrics DOI 10.1007/s00431-011-1606-3 ISSN 0340-6199	HS Pediatrics; Perinatology and Child Health
2012	Artigo em periódico	Diagnosing Hunter syndrome in pediatric practice: practical considerations and common pitfalls Burton Barbara K; Roberto GIUGLIANI European Journal of Pediatrics DOI 10.1007/s00431-012-1703-y ISSN 0340-6199	HS Pediatrics
2012	Artigo em periódico	Study of the comprehension of the scientific method by members of a university health research laboratory Burlamaque Neto A C; Santos G R; Lisbôa L M; Goldim J R; Machado C L B et al Brazilian Journal of Medical and Biological Research on line DOI 10.1590/S0100-879X2012007500002 ISSN 1414-431X	HS Medicine (miscellaneous)
2012	Artigo em periódico	Expert recommendations for the laboratory diagnosis of MPS VI Wood T; Bodamer O A; Burin M G; D Almeida V; Fietz M et al Molecular Genetics and Metabolism (Print) DOI 10.1016/j.ymgme.2012.02.005 ISSN 1096-7192	HS Genetics (clinical)
2012	Artigo em periódico	Intraperitoneal implant of recombinant encapsulated cells overexpressing alpha- <scp>l</scp> -iduronidase partially corrects visceral pathology in mucopolysaccharidosis type I mice Baldo GUILHERME; Mayer Fabiana QUOOS; Martinelli BARBARA; Meyer Fabiola SCHONS; Maira BURIN et al Cytotherapy (Oxford) DOI 10.3109/14653249.2012.672730 ISSN 1465-3249	LS Molecular Biology
2012	Artigo em periódico	Severe phenotype in MPS II patients associated with a large deletion including contiguous genes Brusius Facchin Ana CAROLINA; De Souza Carolina Fischinger MOURA; Schwartz Ida Vanessa D; Riegel MARILUCE; Melaragno Maria ISABEL et al American Journal of Medical Genetics. Part A DOI 10.1002/ajmg.a.35271 ISSN 1552-4825	HS Genetics (clinical)
2012	Artigo em periódico	Blood collecting optimization for Fabry disease screening on hemodialysis A NUNES; M BURIN; A DELGADO; Roberto GIUGLIANI; Elvino BARROS Journal of Medical Research and Science ISSN 2161-7171	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2012	Artigo em periódico	Report of a Large Brazilian Family With a Very Attenuated Form of Hunter Syndrome (MPS II) Quaio CRDC; Grinberg H; Vieira MLC; G N LEAL; Gomy I et al Journal of Inherited Metabolic Disease (Dordrecht Online) ISSN 1573-2665	HS Medicine (miscellaneous)
2012	Artigo em periódico	Functional capacity evaluation of patients with mucopolysaccharidosis Nicole Ruas GUARANY; Schwartz I V D; Guarany FÁBIO; Roberto GIUGLIANI Journal of Pediatric Rehabilitation Medicine ISSN 1874-5393	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2012	Artigo em periódico	Visual Dysfunction of Type I and VI Mucopolysaccharidosis Patients Evaluated with Visual Evoked Cortical Potential Bruno GOMES; Givago SOUZA; Viana Gustavo M; Isabel SOUZA; P S Q FEIO et al Case Reports in Ophthalmology ISSN 1663-2699	LS Molecular Biology
2012	Artigo em periódico	Evidence of a progressive motor dysfunction in Mucopolysaccharidosis type I mice Baldo GUILHERME; Mayer Fabiana QUOOS; Martinelli BARBARA; Dilda ANNA; Meyer FABIOLA et al Behavioural Brain Research DOI 10.1016/j.bbr.2012.04.051 ISSN 0166-4328	LS Behavioral Neuroscience
2012	Artigo em periódico	Biomarkers for the mucopolysaccharidoses: Discovery and clinical utility Clarke Lorne A; Winchester BRYAN; Roberto GIUGLIANI; Tylki Szyma Ska ANNA; Amartino HERNAN Molecular Genetics and Metabolism (Print) DOI 10.1016/j.ymgme.2012.05.003 ISSN 1096-7192	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2012	Artigo em periódico	GSTM1; GSTT1; and GSTP1 polymorphisms; breast cancer risk factors and mammographic density in women submitted to breast cancer screening Aguiar Ernestina Silva DE; Juliana GIACOMAZZI; Schmidt Aishameriane VENES; Hugo BOCK; Saraiva Pereira Maria LUIZA et al Revista Brasileira de Epidemiologia (Impresso) DOI 10.1590/S1415-790X2012000200002 ISSN 1415-790X	LS Cancer Research
2012	Artigo em periódico	A multinational; multidisciplinary consensus for the diagnosis and management of spinal cord compression among patients with mucopolysaccharidosis VI Solanki Guirish A; Alden Tord D; Burton Barbara K; Roberto GIUGLIANI; Horovitz Dafne D G et al Molecular Genetics and Metabolism (Print) DOI 10.1016/j.ymgme.2012.07.018 ISSN 1096-7192	HS Neurology (clinical)
2012	Artigo em periódico	TGFA/Taq I polymorphism and environmental factors in non-syndromic oral clefts in Southern Brazil Souza Liliane Todeschini DE; Kowalski Thayne WOYCINCK; Vanz Ana PAULA; Roberto GIUGLIANI; Têmis Maria FÉLIX Brazilian Oral Research (Impresso) DOI 10.1590/S1806-83242012005000016 ISSN 1806-8324	HS Dentistry (miscellaneous)
2012	Artigo em periódico	Prevalence of ERα-397 PvuII C/T; ERα-351 XbaI A/G and PGR PROGINS polymorphisms in Brazilian breast cancer-unaffected women Giacomazzi J; Aguiar E; Palmero E I; Schmidt A V; Skonieski G et al Brazilian Journal of Medical and Biological Research on line DOI 10.1590/S0100-879X2012007500081 ISSN 1414-431X	LS Cancer Research
2012	Artigo em periódico	UGT1A1; SLCO1B1; and SLCO1B3 polymorphisms vs. neonatal hyperbilirubinemia: is there an association? De Azevedo Laura ALENCASTRO; Da Silveira Themis REVERBEL; Carvalho Clarissa GUTIERREZ; De Castro Simone MARTINS; Roberto GIUGLIANI et al Pediatric Research DOI 10.1038/pr.2012.60 ISSN 0031-3998	HS Medicine (miscellaneous)
2012	Artigo em periódico	Severity score system for progressive myelopathy: development and validation of a new clinical scale Castilhos R M; Deborah BLANK; Netto C B O; Souza C F M; Fernandes L N T et al Brazilian Journal of Medical and Biological Research on line DOI 10.1590/s0100-879x2012007500072 ISSN 1414-431X	HS Neurology (clinical)
2012	Artigo em periódico	Pathogenesis of lumbar spine disease in mucopolysaccharidosis VII Smith Lachlan J; Baldo GUILHERME; Wu SUSAN; Liu YULI; Whyte Michael P et al Molecular Genetics and Metabolism (Print) DOI 10.1016/j.ymgme.2012.03.014 ISSN 1096-7192	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2012	Artigo em periódico	Triagem neonatal para hiperfenilalaninemia: um estudo de coorte S M KARAM; Jardim L B; Roberto GIUGLIANI; Bernardo Lessa HORTA Revista AMRIGS ISSN 0102-2105	HS Medicine (miscellaneous)
2012	Artigo em periódico	High proportion of mannosidosis and fucosidosis among lysosomal storage diseases in Cuba Menéndez Sainz C; González Quevedo A; González García S; Peña Sánchez M; Roberto GIUGLIANI Genetics and Molecular Research DOI 10.4238/2012.August.13.9 ISSN 1676-5680	HS Genetics (clinical)
2012	Artigo em periódico	Importancia de los registros nacionales e internacionales de errores innatos del metabolismo Roberto GIUGLIANI Acta Pediatr Mex ISSN 0186-2391	HS Pediatrics; Perinatology and Child Health
2012	Artigo em periódico	Safety and pharmacodynamic effects of a pharmacological chaperone on α-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studies Germain Dominique P; Roberto GIUGLIANI; Hughes Derralynn A; Mehta ATUL; Nicholls KATHY et al Orphanet Journal of Rare Diseases DOI 10.1186/1750-1172-7-91 ISSN 1750-1172	HS Medicine (miscellaneous)
2012	Artigo em periódico	Mucopolysaccharidoses: From understanding to treatment; a century of discoveries Roberto GIUGLIANI Genetics and Molecular Biology (Impresso) ISSN 1415-4757	HS Medicine (miscellaneous)
2012	Artigo em periódico	Emerging treatment options for the mucopolysaccharidoses Roberto GIUGLIANI; Andressa FEDERHEN; Andre Anjos Da SILVA; Camila Matzenbacher BITTAR; Carolina Fischinger Moura De SOUZA et al Research and Reports in Endocrine Disorders ISSN 2230-2271	LS Endocrinology

2012 Artigo em periódico

HS Pediatrics; Perinatology and Child Health

The role of enzyme replacement therapy in severe Hunter syndrome¿an expert panel consensus

European Journal of Pediatrics

Muenzer JOSEPH; Bodamer OLAF; Burton BARBARA; Clarke LORNE; Frenking Gudrun SCHULZE et al

DOI ISSN 0340-6199

2012 Artigo em periódico

HS Pediatrics

Diagnosing Hunter syndrome in pediatric practice: practical considerations and common pitfalls

European Journal of Pediatrics

Burton Barbara K; Roberto GIUGLIANI

DOI ISSN 0340-6199

2012 Artigo em periódico

HS Medicine (miscellaneous)

Study of the comprehension of the scientific method by members of a university health research laboratory

Brazilian Journal of Medical and Biological Research on line

Burlamaque Neto A C; Santos G R; Lisbôa L M; Goldim J R; Machado C L B et al

DOI ISSN 1414-431X

2012 Artigo em periódico

HS Genetics (clinical)

Expert recommendations for the laboratory diagnosis of MPS VI

Molecular Genetics and Metabolism (Print)

Wood T; Bodamer O A; Burin M G; D Almeida V; Fietz M et al

DOI ISSN 1096-7192

2012 Artigo em periódico

LS Molecular Biology

Intraperitoneal implant of recombinant encapsulated cells overexpressing alpha- <scp>l</scp> -iduronidase partially corrects visceral pathology in mucopolysaccharidosis type I mice

Cytotherapy (Oxford)

Baldo GUILHERME; Mayer Fabiana QUOOS; Martinelli BARBARA; Meyer Fabiola SCHONS; Maira BURIN et al

DOI ISSN 1465-3249

2012 Artigo em periódico

HS Genetics (clinical)

Severe phenotype in MPS II patients associated with a large deletion including contiguous genes

American Journal of Medical Genetics. Part A

Brusius Facchin Ana CAROLINA; De Souza Carolina Fischinger MOURA; Schwartz Ida Vanessa D; Riegel MARILUCE; Melaragno Maria ISABEL et al

DOI ISSN 1552-4825

2012 Artigo em periódico

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

Blood collecting optimization for Fabry disease screening on hemodialysis

Journal of Medical Research and Science

A NUNES; M BURIN; A DELGADO; Roberto GIUGLIANI; Elvino BARROS

ISSN 2161-7171

2012 Artigo em periódico

HS Medicine (miscellaneous)

Report of a Large Brazilian Family With a Very Attenuated Form of Hunter Syndrome (MPS II)

Journal of Inherited Metabolic Disease (Dordrecht Online)

Quaio CRDC; Grinberg H; Vieira MLC; G N LEAL; Gomy I et al

ISSN 1573-2665

2012 Artigo em periódico

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

Functional capacity evaluation of patients with mucopolysaccharidosis

Journal of Pediatric Rehabilitation Medicine

Nicole Ruas GUARANY; Schwartz I V D; Guarany FÁBIO; Roberto GIUGLIANI

ISSN 1874-5393

2012 Artigo em periódico

LS Molecular Biology

Visual Dysfunction of Type I and VI Mucopolysaccharidosis Patients Evaluated with Visual Evoked Cortical Potential

Case Reports in Ophthalmology

Bruno GOMES; Givago SOUZA; Viana Gustavo M; Isabel SOUZA; P S Q FEIO et al

ISSN 1663-2699

2012 Artigo em periódico

LS Behavioral Neuroscience

Evidence of a progressive motor dysfunction in Mucopolysaccharidosis type I mice

Behavioural Brain Research

Baldo GUILHERME; Mayer Fabiana QUOOS; Martinelli BARBARA; Dilda ANNA; Meyer FABIOLA et al

DOI ISSN 0166-4328

2012 Artigo em periódico

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

Biomarkers for the mucopolysaccharidoses: Discovery and clinical utility

Molecular Genetics and Metabolism (Print)

Clarke Lorne A; Winchester BRYAN; Roberto GIUGLIANI; Tylki Szyma Ska ANNA; Amartino HERNAN

DOI ISSN 1096-7192

2012 Artigo em periódico

LS Cancer Research

GSTM1; GSTT1; and GSTP1 polymorphisms; breast cancer risk factors and mammographic density in women submitted to breast cancer screening

Revista Brasileira de Epidemiologia (Impresso)

Aguiar Ernestina Silva DE; Juliana GIACOMAZZI; Schmidt Aishameriane VENES; Hugo BOCK; Saraiva Pereira Maria LUIZA et al

DOI ISSN 1415-790X

2012 Artigo em periódico

HS Neurology (clinical)

A multinational; multidisciplinary consensus for the diagnosis and management of spinal cord compression among patients with mucopolysaccharidosis VI

Molecular Genetics and Metabolism (Print)

Solanki Guirish A; Alden Tord D; Burton Barbara K; Roberto GIUGLIANI; Horovitz Dafne D G et al

DOI ISSN 1096-7192

2012 Artigo em periódico

HS Dentistry (miscellaneous)

TGFA/Taq I polymorphism and environmental factors in non-syndromic oral clefts in Southern Brazil

Brazilian Oral Research (Impresso)

Souza Liliane Todeschini DE; Kowalski Thayne WOYCINCK; Vanz Ana PAULA; Roberto GIUGLIANI; Têmis Maria FÉLIX

DOI ISSN 1806-8324

2012 Artigo em periódico

LS Cancer Research

Prevalence of ERα-397 PvuII C/T; ERα-351 XbaI A/G and PGR PROGINS polymorphisms in Brazilian breast cancer-unaffected women

Brazilian Journal of Medical and Biological Research on line

Giacomazzi J; Aguiar E; Palmero E I; Schmidt A V; Skonieski G et al

DOI ISSN 1414-431X

2012 Artigo em periódico

HS Medicine (miscellaneous)

UGT1A1; SLCO1B1; and SLCO1B3 polymorphisms vs. neonatal hyperbilirubinemia: is there an association?

Pediatric Research

De Azevedo Laura ALENCASTRO; Da Silveira Themis REVERBEL; Carvalho Clarissa GUTIERREZ; De Castro Simone MARTINS; Roberto GIUGLIANI et al

DOI ISSN 0031-3998

2012 Artigo em periódico

HS Neurology (clinical)

Severity score system for progressive myelopathy: development and validation of a new clinical scale

Brazilian Journal of Medical and Biological Research on line

Castilhos R M; Deborah BLANK; Netto C B O; Souza C F M; Fernandes L N T et al

DOI ISSN 1414-431X

2012 Artigo em periódico

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

Pathogenesis of lumbar spine disease in mucopolysaccharidosis VII

Molecular Genetics and Metabolism (Print)

Smith Lachlan J; Baldo GUILHERME; Wu SUSAN; Liu YULI; Whyte Michael P et al

DOI ISSN 1096-7192

2012 Artigo em periódico

HS Medicine (miscellaneous)

Triagem neonatal para hiperfenilalaninemia: um estudo de coorte

Revista AMRIGS

S M KARAM; Jardim L B; Roberto GIUGLIANI; Bernardo Lessa HORTA

ISSN 0102-2105

2012 Artigo em periódico

HS Genetics (clinical)

High proportion of mannosidosis and fucosidosis among lysosomal storage diseases in Cuba

Genetics and Molecular Research

Menéndez Sainz C; González Quevedo A; González García S; Peña Sánchez M; Roberto GIUGLIANI

DOI ISSN 1676-5680

2012 Artigo em periódico

HS Pediatrics; Perinatology and Child Health

Importancia de los registros nacionales e internacionales de errores innatos del metabolismo

Acta Pediatr Mex

Roberto GIUGLIANI

ISSN 0186-2391

2012 Artigo em periódico

HS Medicine (miscellaneous)

Safety and pharmacodynamic effects of a pharmacological chaperone on α-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studies

Orphanet Journal of Rare Diseases

Germain Dominique P; Roberto GIUGLIANI; Hughes Derralynn A; Mehta ATUL; Nicholls KATHY et al

DOI ISSN 1750-1172

2012 Artigo em periódico

HS Medicine (miscellaneous)

Mucopolysaccharidoses: From understanding to treatment; a century of discoveries

Genetics and Molecular Biology (Impresso)

Roberto GIUGLIANI

ISSN 1415-4757

2012 Artigo em periódico

LS Endocrinology

Emerging treatment options for the mucopolysaccharidoses

Research and Reports in Endocrine Disorders

Roberto GIUGLIANI; Andressa FEDERHEN; Andre Anjos Da SILVA; Camila Matzenbacher BITTAR; Carolina Fischinger Moura De SOUZA et al

ISSN 2230-2271